L47V (p.Leu47Val) variant of MMAA (Q8IVH4)
L47V (p.Leu47Val) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
L47V (p.Leu47Val) variant details
- p.Leu47Val
- gnomAD rs1204836039
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 4.07
- PolyPhen-2 0.00
- SIFT 0.56
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available